What is the role of genetics in the etiology of pediatric hypoglycemia?

Updated: Feb 19, 2018
  • Author: Robert P Hoffman, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Activating defects of the GCK gene for the enzyme glucokinase, which serves as the primary glucose sensor in the β cell, are rare. Most of these defects are autosomal recessive, but some are autosomal dominant. This defect causes an increased intracellular ATP/adenosine diphosphate (ADP) ratio and closure of the potassium-ATP channel.

Defects in GLUD1, which encodes the enzyme glutamate dehydrogenase, are usually associated with asymptomatic hyperammonemia and cause hyperinsulinism; however, the relationship is not entirely understood. Noninfant children with these gene defects also have asymptomatic hyperammonemia.

Genetic defects in the enzyme short-chain L-3-hydroxyacyl-CoA dehydrogenase and the transcription factor hepatocyte nuclear factor 4 alpha have been described in patients with hypoketotic hyperinsulinemic hypoglycemia, although the causal mechanisms are unknown.

A defect in SLC16A1 (monocarboxylate transporter) may cause exercise-induced hyperinsulinemic hypoglycemia.


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